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Deficiency of phosphoserine phosphatase(PSPHD)

MedGen UID:
452940
Concept ID:
C1291463
Disease or Syndrome
Synonyms: Phosphoserine phosphatase deficiency; PSPH deficiency; PSPHD
SNOMED CT: Deficiency of choline phosphatase (124432005); Deficiency of phosphoserine phosphatase (124432005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): PSPH (7p11.2)
 
Monarch Initiative: MONDO:0013531
OMIM®: 614023
Orphanet: ORPHA79350

Definition

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term). [from ORDO]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hyposerinemia
MedGen UID:
868572
Concept ID:
C4022971
Finding
Reduced concentration of serine in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of phosphoserine phosphatase
Follow this link to review classifications for Deficiency of phosphoserine phosphatase in Orphanet.

Professional guidelines

PubMed

de Koning TJ
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0. PMID: 16763900

Recent clinical studies

Etiology

Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
Marchesani F, Michielon A, Viale E, Bianchera A, Cavazzini D, Pollegioni L, Murtas G, Mozzarelli A, Bettati S, Peracchi A, Campanini B, Bruno S
Biomolecules 2023 Aug 4;13(8) doi: 10.3390/biom13081219. PMID: 37627284Free PMC Article
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452
Planitzer SA, Machl AW, Rueckels M, Kubbies M
Gene 1998 Apr 14;210(2):297-306. doi: 10.1016/s0378-1119(98)00083-3. PMID: 9573387

Diagnosis

Marchesani F, Michielon A, Viale E, Bianchera A, Cavazzini D, Pollegioni L, Murtas G, Mozzarelli A, Bettati S, Peracchi A, Campanini B, Bruno S
Biomolecules 2023 Aug 4;13(8) doi: 10.3390/biom13081219. PMID: 37627284Free PMC Article
Peng ZP, Liu XC, Ruan YH, Jiang D, Huang AQ, Ning WR, Jiang ZZ, Zheng L, Wu Y
J Immunother Cancer 2023 Feb;11(2) doi: 10.1136/jitc-2022-005986. PMID: 36849198Free PMC Article
Tandon M, Othman AH, Winogradzki M, Pratap J
Gene 2021 Apr 5;775:145419. Epub 2021 Jan 12 doi: 10.1016/j.gene.2021.145419. PMID: 33444686
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ
J Inherit Metab Dis 2013 Jul;36(4):613-9. Epub 2013 Mar 6 doi: 10.1007/s10545-013-9592-4. PMID: 23463425
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452

Therapy

Peng ZP, Liu XC, Ruan YH, Jiang D, Huang AQ, Ning WR, Jiang ZZ, Zheng L, Wu Y
J Immunother Cancer 2023 Feb;11(2) doi: 10.1136/jitc-2022-005986. PMID: 36849198Free PMC Article
Montrose DC, Saha S, Foronda M, McNally EM, Chen J, Zhou XK, Ha T, Krumsiek J, Buyukozkan M, Verma A, Elemento O, Yantiss RK, Chen Q, Gross SS, Galluzzi L, Dow LE, Dannenberg AJ
Cancer Res 2021 May 1;81(9):2275-2288. Epub 2021 Feb 1 doi: 10.1158/0008-5472.CAN-20-1541. PMID: 33526512Free PMC Article
Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW
Mol Genet Metab 2018 Mar;123(3):309-316. Epub 2017 Dec 12 doi: 10.1016/j.ymgme.2017.12.009. PMID: 29269105
de Koning TJ
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0. PMID: 16763900
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452

Prognosis

Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
Yun HJ, Li M, Guo D, Jeon SM, Park SH, Lim JS, Lee SB, Liu R, Du L, Kim SH, Shin TH, Eyun SI, Park YY, Lu Z, Lee JH
J Exp Clin Cancer Res 2023 Dec 15;42(1):340. doi: 10.1186/s13046-023-02927-3. PMID: 38098117Free PMC Article

Clinical prediction guides

Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
Montrose DC, Saha S, Foronda M, McNally EM, Chen J, Zhou XK, Ha T, Krumsiek J, Buyukozkan M, Verma A, Elemento O, Yantiss RK, Chen Q, Gross SS, Galluzzi L, Dow LE, Dannenberg AJ
Cancer Res 2021 May 1;81(9):2275-2288. Epub 2021 Feb 1 doi: 10.1158/0008-5472.CAN-20-1541. PMID: 33526512Free PMC Article
Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW
Mol Genet Metab 2018 Mar;123(3):309-316. Epub 2017 Dec 12 doi: 10.1016/j.ymgme.2017.12.009. PMID: 29269105
El-Hattab AW
Mol Genet Metab 2016 Jul;118(3):153-159. Epub 2016 Apr 22 doi: 10.1016/j.ymgme.2016.04.010. PMID: 27161889
Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E
Eur J Hum Genet 2004 Feb;12(2):163-6. doi: 10.1038/sj.ejhg.5201083. PMID: 14673469

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